Record Status This is a bibliographic record of a published health technology assessment. No evaluation of the quality of this assessment has been made for the HTA database. Citation Kabuki syndrome. Lansdale: HAYES, Inc.. Genetic Testing Publication. 2013 Authors' conclusions Kabuki syndrome (KS) occurs in 1 in 32,000 to 86,000 births in both sexes and has been reported in nearly all ethnicities. Individuals with KS have a characteristic facial appearance that resembles the features of Japanese Kabuki theater actors. The space between upper and lower eyelids is elongated and the lateral third of the lower lid is typically turned out; eyebrows are arched, broad, and notched or sparse; the nose is short and broad; and ears are prominent and often cupped. Other symptoms nearly always associated with a diagnosis of KS include skeletal irregularities, prominent fingertip pads, intellectual delay, and slowed postnatal growth. KS patients may also have heart defects; genitourinary and gastrointestinal irregularities; hypermobile joints; cleft lip/palate and associated feeding difficulties; misaligned eyes with drooping lids; poorly developed teeth; ear pits; seizures; hearing loss; autoimmune disorders; increased susceptibility to infections, particularly of the ear; and premature breast budding in females. Treatment of KS is symptom driven. As clinical manifestations are not fatal, life expectancy may be normal, although potentially affected by secondary complications. KS has been linked to sequence variants in the myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2) gene. MLL2 encodes a protein important to the regulation of gene transcription and chromatin structure in early development. MLL2 variants such as those associated with KS likely lead to a deficiency in the amount of normal MLL2 protein. While the majority of KS cases have been reported in individuals with no family history of KS, some familial cases have been identified and suggest an autosomal dominant pattern of inheritance. Indexing Status Subject indexing assigned by CRD MeSH Child; Face; Humans, Multiple Language Published English Country of organisation United States English summary An English language summary is available. Address for correspondence HAYES, Inc., 157 S. Broad Street, Suite 200, Lansdale, PA 19446, USA. Tel: 215 855 0615; Fax: 215 855 5218 Email: hayesinfo@hayesinc.com AccessionNumber 32013000318 Date abstract record published 30/04/2013 |